| | LOC126805688, YARS1 (F269S) | Single nucleotide variant (missense variant) | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Cerebellar vermis hypoplasia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Corpus callosum, agenesis of +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Multiple congenital anomalies +3 more | |
| | | Duplication (frameshift variant) | Corpus callosum, agenesis of +4 more | |
| | | Single nucleotide variant (missense variant) | Tubulinopathy-associated dysgyria +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Corpus callosum, agenesis of +3 more | |
| | | Duplication (frameshift variant) | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Syndromic neurodevelopmental disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Corpus callosum, agenesis of | |
| | | Single nucleotide variant (missense variant) | Ventriculomegaly +5 more | |
| | | Single nucleotide variant (missense variant) | Congenital cerebellar hypoplasia +2 more | |